Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BR...

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Dades bibliogràfiques
Publicat a:Biomark Res
Autors principals: Miele, Evelina, Mastronuzzi, Angela, Po, Agnese, Carai, Andrea, Alfano, Vincenzo, Serra, Annalisa, Colafati, Giovanna Stefania, Strocchio, Luisa, Antonelli, Manila, Buttarelli, Francesca Romana, Zani, Massimo, Ferraro, Sergio, Buffone, Amelia, Vacca, Alessandra, Screpanti, Isabella, Giangaspero, Felice, Giannini, Giuseppe, Locatelli, Franco, Ferretti, Elisabetta
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4462002/
https://ncbi.nlm.nih.gov/pubmed/26064523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40364-015-0038-z
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